Detection of subclinical atherosclerosis in familial hypercholesterolemia using non-invasive imaging modalities.

OBJECTIVES: To investigate the extent of subclinical atherosclerosis in asymptomatic familial hypercholesterolemia (FH) patients using non-invasive images techniques.

PATIENTS, METHODS AND RESULTS: The atherosclerotic burden of 36 molecularly defined FH patients (18 males, 45.7±10.9 years) without evidence of cardiovascular disease receiving lipid-lowering treatment and 19 (47.8±11.3 years) controls was investigated. Descending thoracic aorta magnetic resonance imaging (MRI) was performed in a 1.5 T equipment with T1 and T2 sequences to characterize atherosclerotic plaques and to measure aortic wall volumen. Carotid intima-media thickness (cIMT) and presence of plaques were measured using B-mode carotid ultrasound. Mean aortic wall volumen, cIMT and atherosclerotic plaques in aorta were significantly higher in FH cases (P<0.001). A significant correlation between aortic wall volume and cIMT was observed (P<0.01). Aortic MRI detected plaques in 94% and carotid ultrasound in 14% of cases. Lipid-rich plaques were observed only in FH cases (33%) and were associated with family history of premature coronary artery disease (P<0.05).

CONCLUSIONS: Asymptomatic middle-aged FH patients have significantly higher atherosclerotic burden than controls. cIMT has shown a significant correlation with aortic wall volume and MRI allowed the detection of lipid-rich plaques in FH subjects that were associated with family history of premature coronary artery disease.